List of variants in gene COL3A1 reported as likely pathogenic for Ehlers-Danlos syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.1322del (p.Gly441fs)	rs1688259777
NM_000090.4(COL3A1):c.2113G>A (p.Gly705Arg)	rs587779623
NM_000090.4(COL3A1):c.2122G>A (p.Gly708Ser)	rs2153503019
NM_000090.4(COL3A1):c.2815G>C (p.Gly939Arg)	rs587779550
NM_000090.4(COL3A1):c.582+1G>C	rs587779508
NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys)	rs1553507432
NM_000090.4(COL3A1):c.971G>T (p.Gly324Val)	rs2153502168

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.